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■ Abbreviation / Long Form : GAA / alpha-glucosidase

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Total Number of Papers: 294
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Abbreviation:   GAA  (>> Co-occurring Abbreviation)
Long Form:   alpha-glucosidase
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2019 A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease. ---
2019 A genetic modifier of symptom onset in Pompe disease. SNVs
2019 AAV Gene Transfer with Tandem Promoter Design Prevents Anti-transgene Immunity and Provides Persistent Efficacy in Neonate Pompe Mice. LiMP
2019 HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA). ADA, iTEM, rhGAA
2019 Improved efficacy of a next-generation ERT in murine Pompe disease. ERT, rhGAA
2019 Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid alpha-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease. AAV, CB, CMV, GAA-KO
2019 Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study. DBS, LOPD
2019 Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy. ---
2019 Salmeterol with Liver Depot Gene Therapy Enhances the Skeletal Muscle Response in Murine Pompe Disease. AAV, CI-MPR
10  2019 Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease. AAV, CNS
11  2018 2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease. ERT, FDG, PD
12  2018 A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. IOPD, LOPD
13  2018 A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice. ---
14  2018 A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy. ERT, IOPD, PD
15  2018 Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation. GLA
16  2018 Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD). 6MWT, ERT, LOPD
17  2018 Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. rhGAA
18  2018 Efficient therapy for refractory Pompe disease by mannose 6-phosphate analogue grafting on acid alpha-glucosidase. CI-M6PR
19  2018 Interpretation of acid alpha-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy. BMD, MLPA
20  2018 Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation? ---
21  2018 Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. CLIR
22  2018 Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy. DBS, LOPD
23  2018 Robust hybrid enzyme nanoreactor mediated plasmonic sensing strategy for ultrasensitive screening of anti-diabetic drug. GOx, SPR
24  2018 Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease. ---
25  2018 The impact of Pompe disease on smooth muscle: a review. ERT
26  2018 Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. DBS, LOPD
27  2018 [Research advances in the diagnosis and treatment of Pompe disease]. ERT
28  2017 A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells. IOPD, iPSCs, mTORC1, rhGAA
29  2017 A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease. IGF2, rh
30  2017 Age and gender-specific reference intervals for lysosomal enzymes in dried blood spot samples: A study in Indian population. ASM, DBS, GALC, GBA, GLA
31  2017 Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice. ASM, MCh, WT
32  2017 Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease. AONs, snRNA
33  2017 Clinical Analysis of Algerian Patients with Pompe Disease. DBS, IOPD
34  2017 Disruption of the gaa Gene in Zebrafish Fails to Generate the Phenotype of Classical Pompe Disease. dpf, GSDII, WT
35  2017 Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid alpha-Glucosidase in Pompe Patients Co-administered with Alglucosidase alpha. AA
36  2017 Enzyme replacement therapy for infantile-onset Pompe disease. CENTRAL, CRIM
37  2017 Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology. DBS, ERT, LGMW, LOPD
38  2017 GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells. AONs, iPSC
39  2017 Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology. AMOs, ERT, GSDII
40  2017 Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients. ---
41  2017 Infantile-onset Pompe disease with neonatal debut: A case report and literature review. ---
42  2017 Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity. MIP, MV
43  2017 Late-onset Pompe disease in a 54 year-old sportsman with an episode of syncope: a case report. LOPD
44  2017 Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid alpha-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. IS, PD
45  2017 Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease. AAV, CNS, ERT
46  2017 Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction. AAV, ERT, KO, MED, rh, vg
47  2017 Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease. DBS, LOPD, MS/MS
48  2017 Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease. ALT, AST, CI, CK, IOPD, LDH
49  2017 Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid alpha-glucosidase. AAV
50  2017 Reveglucosidase alfa (BMN 701), an IGF2-Tagged rhAcid alpha-Glucosidase, Improves Respiratory Functional Parameters in a Murine Model of Pompe Disease. CI-MPR, PEF, PIF, rhGAA
51  2017 Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. GSD, LVEF
52  2017 Structure of human lysosomal acid alpha-glucosidase-a guide for the treatment of Pompe disease. rhGAA
53  2017 The emerging phenotype of late-onset Pompe disease: A systematic literature review. ERT, LOPD
54  2017 The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease. NBS
55  2017 Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy. ---
56  2017 [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy]. GSD
57  2017 [Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases]. GSDII
58  2016 Altered expression of lysosomal hydrolase, acid alpha-glucosidase, gene in coronary artery disease. CAD
59  2016 Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease. AAV, AAV9-DES-coGAA, coGAA, ERT, LSP
60  2016 Design of Potent Mannose 6-Phosphate Analogues for the Functionalization of Lysosomal Enzymes To Improve the Treatment of Pompe Disease. CI-M6PR, ERT, M6P
61  2016 Detection of Active Mammalian GH31 alpha-Glucosidases in Health and Disease Using In-Class, Broad-Spectrum Activity-Based Probes. ABPs, ER
62  2016 Infantile Pompe disease: A case report and review of the Chinese literature. ERT
63  2016 Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD). CTA, LOPD, VBD
64  2016 Long-term, high-level hepatic secretion of acid alpha-glucosidase for Pompe disease achieved in non-human primates using helper-dependent adenovirus. GSD-II, HDAd
65  2016 LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. DBS, LOPD, LOPED
66  2016 Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice. PAS
67  2016 Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years. ERT, LOPD
68  2016 Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. DBS, GALC, GBA, GLA, IDUA, MPS-I, MS/MS, NBS, SMPD1
69  2016 Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. DBS, LGMW
70  2016 Production and characterization of recombinant human acid alpha-glucosidase in transgenic rice cell suspension culture. RAmy3D
71  2016 Salmeterol enhances the cardiac response to gene therapy in Pompe disease. AAV, CI-MPR, DHEA, ERT, KO, rh
72  2016 Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver. ---
73  2016 Targeted approaches to induce immune tolerance for Pompe disease therapy. ---
74  2016 TFEB overexpression promotes glycogen clearance of Pompe disease iPSC-derived skeletal muscle. PD
75  2016 The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study. DBS
76  2016 Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology. ---
77  2016 Transfer of Therapeutic Genes into Fetal Rhesus Monkeys Using Recombinant Adeno-Associated Type I Viral Vectors. IHC, rAAV
78  2015 Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening. Glc4, NBS
79  2015 c.1437G>A intron 9 substitution on acid alpha-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. ---
80  2015 Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. ERT, LOPD
81  2015 Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease. AAV, NMJ
82  2015 Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia. CK
83  2015 Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient. iPSC
84  2015 Enhanced efficacy from gene therapy in Pompe disease using coreceptor blockade. AAV, ERT, mAb, rh
85  2015 Enzyme enhancers for the treatment of Fabry and Pompe disease. ERT, FD, LSD, PC, PD
86  2015 Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases. DBFP, DLFP, GBA, GD, LSD, MD, PD
87  2015 Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes. iPS
88  2015 Pompe disease: Shared and unshared features of lysosomal storage disorders. ---
89  2015 Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal alpha-Glucosidase in Pompe Disease. PC
90  2015 Synergistic Efficacy from Gene Therapy with Coreceptor Blockade and a beta2-Agonist in Murine Pompe Disease. AAV, ERT, rhGAA
91  2015 Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. DBS, LGMD
92  2015 The infantile-onset form of Pompe disease: an autopsy diagnosis. PD
93  2015 The plasma activities of lysosomal enzymes in infants with necrotizing enterocolitis: new promising class of biomarkers? ABG, GALC, NEC
94  2015 Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts. NPs
95  2015 [Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II]. CK, GSDII, PCR
96  2015 [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II]. DBS, GSDII
97  2015 [Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy]. ERT
98  2014 A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. CK, ERT, IOPD, LOPD
99  2014 A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. CRIM, ERT, rhGAA
100  2014 Adjunctive beta2-agonist treatment reduces glycogen independently of receptor-mediated acid alpha-glucosidase uptake in the limb muscles of mice with Pompe disease. AAV, CI-MPR, KO